Canonical Allele Identifier: CA3732253

Gene: CYP21A2

Linked Data

• dbSNP Id: rs761670634
• ExAC: 6:32006183 C / G
• gnomAD v2: 6-32006183-C-G
• gnomAD v3: 6-32038406-C-G
• gnomAD v4: 6-32038406-C-G
• MyVariant Identifiers: chr6:g.32006183C>G (hg19) ; chr6:g.32038406C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038406C>G , CM000668.2:g.32038406C>G	GRCh38
NC_000006.11:g.32006183C>G , CM000668.1:g.32006183C>G	GRCh37
NC_000006.10:g.32114162C>G	NCBI36
NG_007941.2:g.5102C>G
NG_007941.3:g.5102C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418967.6:c.-17C>G	ENSP00000408860.2:n.-17C>G
ENST00000466779.5:c.-17C>G	ENSP00000417321.1:n.-17C>G
ENST00000478281.5:c.-17C>G	ENSP00000419572.1:n.-17C>G
ENST00000479074.5:n.42C>G
ENST00000479730.5:n.42C>G
ENST00000480027.1:n.37C>G
ENST00000483041.5:n.37C>G
ENST00000486063.5:n.67C>G
NM_000500.7:c.-17C>G	NP_000491.4:n.-17C>G
NM_001128590.3:c.-17C>G	NP_001122062.3:n.-17C>G
XM_011514314.1:c.-441C>G	XP_011512616.1:n.-441C>G
NM_001368143.1:c.-441C>G	NP_001355072.1:n.-441C>G
NM_001368144.1:c.-351C>G	NP_001355073.1:n.-351C>G